Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles or phenotypes in a large series of PLCH patien...

Full description

Saved in:
Bibliographic Details
Published in:Orphanet journal of rare diseases 2021-02, Vol.16 (1), p.72-72, Article 72
Main Authors: McCarthy, Cormac, Bugnet, Emmanuelle, Benattia, Amira, Keane, Michael P, Vedie, Benoit, Lorillon, Gwenaël, Tazi, Abdellatif
Format: Article
Language:English
Subjects:
Alleles
Alpha 1-antitrypsin
Alpha 1-antitrypsin deficiency
Carbon monoxide
Complications and side effects
Computed tomography
Cysts
Dendritic cells
Emphysema
Extracellular matrix
Genotype & phenotype
Health aspects
Histiocytosis
Langerhans cell histiocytosis
Letter to the Editor
Lung diseases
Measurement
Medical research
Mutation
Pathogenesis
Phenotypes
Population studies
Rare diseases
Respiratory function
Risk factors
Smoking
Statistics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles or phenotypes in a large series of PLCH patients and whether serum alpha-1 antitrypsin levels correlated with markers of disease severity. Fifty PLCH patients, 24 with a diffuse cystic lung pattern and 26 with a typical nodulo-cystic pattern on imaging were included. The mean alpha-1 antitrypsin levels were in normal range for both the population with diffuse cystic lung pattern population (1.39 g/L ± 0.37) and the nodulo-cystic pattern group (1.41 g/L ± 0.21). Deficiency alleles PiZ and PiS were 1% and 2% respectively in the entire study population of 50 patients, demonstrating no increased incidence of alpha-1 antitrypsin deficiency in PLCH. Alpha-1 antitrypsin levels showed no correlation with lung function parameters or extent of cystic lesions on lung computed tomography.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-021-01720-9